ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.1200C>T (p.Thr400=)

gnomAD frequency: 0.00001  dbSNP: rs779897567
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001185772 SCV001352050 likely benign Cardiomyopathy 2019-05-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001417967 SCV001620181 likely benign Lethal congenital glycogen storage disease of heart 2018-04-22 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004003283 SCV004842226 likely benign Hypertrophic cardiomyopathy 2023-04-03 criteria provided, single submitter clinical testing

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